UW researchers play major role in next phase of Human Genome Project

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has awarded University of Washington researchers $10.8 million as part of a national effort to expand the ENCyclopedia of DNA Elements (ENCODE) project. The project is the next phase of the Human Genome Project in which researchers will attempt to read instructions hidden within the human genome sequence and determine how to switch genes on and off.

“Based on ENCODE’s early success, we are moving forward with a full-scale initiative to build a parts list of biologically functional elements in the human genome,” said NHGRI Director Francis S. Collins. “The ENCODE pilot, which looked at just 1 percent of the human genetic blueprint, produced findings that are reshaping many long-held views about our genome. ENCODE’s effort to survey the entire genome will uncover even more exciting surprises, providing us with a more complete picture of the biological roots of human health and disease.”

Dr. John Stamatoyannopoulos, UW professor of medicine and genome sciences, will receive $9.7 million to map the locations of DNA sequences that encode instructions for controlling genes in cell types thought to be most important for human disease. In each cell in the body, only a fraction of the approximately 35,000 human genes are switched on. Stamatoyannopoulos’ team will map regulatory regions — DNA sequences responsible for switching genes on and off to produce the unique pattern seen in each cell type. Regulatory regions are known to play critical roles in many human diseases, including cancer, diabetes, and immune disorders, and a complete map of these regions will speed research into the causes of disease. Stamatoyannopoulos played a leading role in the ENCODE pilot project and was a senior author of the consortium’s publication in the journal Nature earlier this year.

Dr. Michael Dorschner, a member of the UW Department of Medicine’s Division of Medical Oncology faculty, will receive $1.1 million to develop a new technology for reading the regulatory sequences to determine which DNA letters actually contact regulatory proteins. This technology could have major applications in identifying specific disease-causing genetic mutations.

“We are excited to be part of the scaled-up ENCODE project, which promises to re-define our understanding of how the human genome works,” Stamatoyannopoulos said. “The work the UW groups and other consortium members will be undertaking has the potential to close dramatically the gap between knowing the sequence of the human genome and understanding its role in human disease.”